{"Name":"FADD-related immunodeficiency","DiseaseID__c":"GARD:0015004","id":15004,"encodedName":"fadd-related-immunodeficiency","IsDeleted":false,"Disease_Name_Full__c":"FADD-related immunodeficiency","Xref_IDs__c":"723334006; C3151062; DOID:0061060; MEDGEN:462412; MONDO:0013408; OMIM:613759; ORPHA:306550","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0013408","Disease_Description__c":"FADD-related immunodeficiency is a rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the <i>FADD</i> gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.","GARD_Name__c":"FADD-related immunodeficiency","GARD_Synonym__c":"fadd deficiency; immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction; infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations","Curated_Disease_Description_Source__c":"ORPHA:306550","Curated_Disease_Description__c":"FADD-related immunodeficiency is a rare genetic immunological disease presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the <i>FADD</i> gene (11q13.3) has been related to the disease and is thought to follow an autosomal recessive pattern of inheritance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:306550","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013408","ORPHANET_ID__c":"ORPHA:306550","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia asociada al gen fadd","Spanish_Description_Source__c":"ORPHA:306550","Spanish_Description__c":"Es una enfermedad inmunológica genética y poco frecuente descrita en una única familia consanguínea Pakistaní con varios miembros afectados. Se manifiesta con graves infecciones bacterianas y víricas, hepatopatía recurrente (inflamación portal, fibrosis), y episodios recurrentes febriles típicos, en ocasiones durante varios días, con encefalopatía y convulsiones difíciles de controlar. También se han descrito malformaciones cardiacas variables. A pesar de tratarse de síntomas similares a los del síndrome linfoproliferativo autoinmune (SLPA), no se observó el SLPA clínico. En esta familia, se encontró una mutación en homocigosis con cambio de sentido en el gen <i>FADD</i> (11q13.3) y se sospecha que la enfermedad sigue un patrón de herencia autosómico recesivo.","Spanish_Disease_Name__c":"inmunodeficiencia asociada al gen fadd","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98004","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"FADD-related immunodeficiency is a rare genetic immunological disease presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the <i>FADD</i> gene (11q13.3) has been related to the disease and is thought to follow an autosomal recessive pattern of inheritance.","Curated_Disease_Description_Source__c":"ORPHA:306550","GARD_Synonym__c":"fadd deficiency; immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction; infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations","Name":"FADD-related immunodeficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:306550"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:306550"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/306550","Source__c":"C3151062; MONDO:0013408","Xref__c":"ORPHA:306550"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=462412","Source__c":"C3151062","Xref__c":"MEDGEN:462412"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723334006","Source__c":"MONDO:0013408","Xref__c":"723334006"},{"URL__c":"https://www.omim.org/entry/613759","Source__c":"C3151062; MONDO:0013408; ORPHA:306550","Xref__c":"OMIM:613759"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3151062","Source__c":"C3151062","Xref__c":"C3151062"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013408","Source__c":"GARD:0015004","Xref__c":"MONDO:0013408"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0061060","Source__c":"MONDO:0013408","Xref__c":"DOID:0061060"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FADD","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:306550","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001298","HPO_Name__c":"Encephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:306550","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004935","HPO_Synonym__c":"Atresia of the pulmonary artery; Pulmonary atresia","HPO_Name__c":"Pulmonary artery atresia","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:306550","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002059","HPO_Synonym__c":"Degeneration of cerebrum","HPO_Name__c":"Cerebral atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:306550","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001395","HPO_Synonym__c":"Liver fibrosis","HPO_Name__c":"Hepatic fibrosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:306550","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030057","HPO_Name__c":"Autoimmune antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:306550","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001629","HPO_Synonym__c":"Hole in heart wall separating two lower heart chambers; Ventricular septal defects; Ventriculoseptal defect; VSD","HPO_Name__c":"Ventricular septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:306550","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Reduced ability of the liver to perform its functions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001410","HPO_Synonym__c":"Decreased liver function; Liver dysfunction","HPO_Name__c":"Decreased liver function","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:306550","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Immunology","Pediatrics"],"Cause":["Genetics"],"Disease Category":["Genetics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["fadd deficiency"," immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction"," infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations"]}